Linked Data
ClinVar Variation Id:
186888
dbSNP Id:
rs786203299
gnomAD v2:
17-33427993-T-C
gnomAD v3:
17-35100974-T-C
gnomAD v4:
17-35100974-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35100974T>C , CM000679.2:g.35100974T>C | GRCh38 |
| NC_000017.10:g.33427993T>C , CM000679.1:g.33427993T>C | GRCh37 |
| NC_000017.9:g.30452106T>C | NCBI36 |
| NG_031858.1:g.23896A>G , LRG_516:g.23896A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.831A>G | ENSP00000468273.3:p.Thr277= | |
| ENST00000587405.6:c.609A>G | ENSP00000466478.2:p.Thr203= | |
| ENST00000590016.6:c.1026A>G | ENSP00000466399.1:p.Thr342= | |
| ENST00000592577.6:c.609A>G | ENSP00000466839.2:p.Thr203= | |
| ENST00000345365.11:c.966A>G MANE Select | ENSP00000338790.6:p.Thr322= | |
| ENST00000335858.11:c.630A>G | ENSP00000338408.6:p.Thr210= | |
| ENST00000345365.10:c.966A>G | ENSP00000338790.6:p.Thr322= | |
| ENST00000394589.8:c.966A>G | ENSP00000378090.4:p.Thr322= | |
| ENST00000460118.6:c.435A>G | ENSP00000464356.2:p.Thr145= | |
| ENST00000586044.5:c.*697A>G | ENSP00000465584.1:n.*697A>G | |
| ENST00000586210.5:c.*560A>G | ENSP00000465612.1:n.*560A>G | |
| ENST00000587977.5:c.*706A>G | ENSP00000466587.1:n.*706A>G | |
| ENST00000588372.5:c.*449A>G | ENSP00000468764.1:n.*449A>G | |
| ENST00000588594.5:c.*562A>G | ENSP00000465366.1:n.*562A>G | |
| ENST00000590016.5:c.1026A>G | ENSP00000466399.1:p.Thr342= | |
| ENST00000591723.5:c.372+227A>G | ENSP00000467986.1:n.372+227A>G | |
| ENST00000592181.1:c.546+227A>G | ENSP00000464799.1:n.546+227A>G | |
| ENST00000593039.5:c.426+227A>G | ENSP00000466834.1:n.426+227A>G | |
| NM_001142571.1:c.1026A>G | NP_001136043.1:p.Thr342= | |
| NM_002878.3:c.966A>G , LRG_516t1:c.966A>G | NP_002869.3:p.Thr322= | |
| NM_133629.2:c.630A>G | NP_598332.1:p.Thr210= | |
| NR_037711.1:n.1103A>G | ||
| NR_037712.1:n.968A>G | ||
| NR_037714.1:n.655+227A>G | ||
| NM_001142571.2:c.1026A>G | NP_001136043.1:p.Thr342= | |
| NM_133629.3:c.630A>G | NP_598332.1:p.Thr210= | |
| NR_037711.2:n.992A>G | ||
| NR_037712.2:n.857A>G | ||
| NM_002878.4:c.966A>G MANE Select | NP_002869.3:p.Thr322= |